Search Result "digenic inheritance"


Modifiers of Hearing Impairment in Humans and Mice

Journal: Current Genomics
Volume: 11 Issue: 4 Year: 2010 Page: 269-278
Author(s): Denise Yan, Xue-Zhong Liu

Review Article open access plus

NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment

Journal: Current Medicinal Chemistry
Volume: 25 Issue: 3 Year: 2018 Page: 404-432
Author(s): Ana Fernandez-Marmiesse,Sofia Gouveia,Maria L. Couce

Good Epidemiologic Practice in Retinitis Pigmentosa: From Phenotyping to Biobanking

Journal: Current Genomics
Volume: 12 Issue: 4 Year: 2011 Page: 260-266
Author(s): Alessandro Galan, Marzio Chizzolini, Elisabeth Milan, Adolfo Sebastiani, Ciro Costagliola, Francesco Parmeggiani

Gene-Based Therapies for Dominant Retinopathies

Journal: Current Gene Therapy
Volume: 10 Issue: 5 Year: 2010 Page: 381-388
Author(s): G. Jane Farrar, Arpad Palfi, Paul F.Kenna, Mary OReilly

Retinitis Pigmentosa: Genes and Disease Mechanisms

Journal: Current Genomics
Volume: 12 Issue: 4 Year: 2011 Page: 238-249
Author(s): Francesco Parmeggiani, Francesco S. Sorrentino, Diego Ponzin, Vanessa Barbaro, Stefano Ferrari, Enzo Di Iorio

AAV-Mediated Gene Therapy in Mouse Models of Recessive Retinal Degeneration

Journal: Current Molecular Medicine
Volume: 12 Issue: 3 Year: 2012 Page: 316-330
Author(s): J.-J. Pang, L. Lei, X. Dai, W. Shi, X. Liu, A. Dinculescu, J. H. McDowell

Diagnostic Challenges in Retinitis Pigmentosa: Genotypic Multiplicity and Phenotypic Variability

Journal: Current Genomics
Volume: 12 Issue: 4 Year: 2011 Page: 267-275
Author(s): Susie Chang, Leah Vaccarella, Sunday Olatunji, Colleen Cebulla, John Christoforidis

Apoptosis: A Potential Therapeutic Target for Retinal Degenerations

Journal: Current Neurovascular Research
Volume: 1 Issue: 1 Year: 2004 Page: 41-53
Author(s): Francesca Doonan, Thomas G. Cotter

Gene Polymorphisms, Mutations and Epigenetics in Heart Failure

Ebook: Frontiers in Heart Failure
Volume: 1 Year: 2016
Author(s): Daphne Koumbi,Constantina Sambani,George P. Patrinos,Panagoula Kollia
Doi: 10.2174/9781681083759116010008

AAV-Mediated Gene Supply for Treatment of Degenerative and Neovascular Retinal Diseases

Journal: Current Gene Therapy
Volume: 10 Issue: 5 Year: 2010 Page: 371-380
Author(s): Pasqualina Colella, Alberto Auricchio

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